Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms.

Penel-Capelle, D; Dobbelaere, D; Jaeken, J; Klein, A; Cartigny, M; Weill, J

Penel-Capelle, D; Dobbelaere, D; Jaeken, J; Klein, A; Cartigny, M; Weill, J.

Affiliation

Penel-Capelle D; Unit of Metabolic Diseases, Department of Pediatrics, Lille University Children's Hospital, Lille, France.

J Inherit Metab Dis ; 26(1): 83-5, 2003.

Article in En | MEDLINE | ID: mdl-12872847

Subject(s)

Congenital Disorders of Glycosylation/complications; Congenital Disorders of Glycosylation/genetics; Gastrointestinal Diseases/etiology; Glycosylation; Congenital Disorders of Glycosylation/drug therapy; DNA Mutational Analysis; Female; Gastrointestinal Diseases/prevention & control; Hepatomegaly/drug therapy; Hepatomegaly/etiology; Humans; Hyperinsulinism/blood; Hyperinsulinism/etiology; Hypoglycemia/blood; Hypoglycemia/etiology; Infant; Mannose/therapeutic use; Mutation/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Glycosylation / Congenital Disorders of Glycosylation / Gastrointestinal Diseases Type of study: Diagnostic_studies / Etiology_studies Limits: Female / Humans / Infant Language: En Journal: J Inherit Metab Dis Year: 2003 Type: Article Affiliation country: France

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